Indigenome VS ClinVar IDs Relevant information available in ClinVar
Variant Identifiers ClinVar Name Variant Type Clinical Significance Phenotype Condition Review Status Variation/condition record
IndiGenomes: chr16:89738895:GAGA>G
 
ClinVar:           chr16:89738895:G>C 		NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) SNV
Pathogenic/Likely pathogenic Fanconi anemia complementation group A
Fanconi anemia		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000665549RCV001229363
IndiGenomes: chr16:89740839:A>C
 
ClinVar:           chr16:89740839:AAGG>A 		NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) Deletion
Pathogenic/Likely pathogenic Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV001377928RCV003883621RCV002499780RCV004743442
IndiGenomes: chr16:89742930:G>T
 
ClinVar:           chr16:89742930:G>GA 		NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) Duplication
Pathogenic/Likely pathogenic Fanconi anemia
Fanconi anemia complementation group A		 Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV000703200RCV001274528
IndiGenomes: chr16:89749728:A>AC
 
ClinVar:           chr16:89749728:A>AC 		NM_000135.4(FANCA):c.3239+1dup Duplication
Pathogenic Fanconi anemia
Fanconi anemia complementation group A		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV000821969RCV003448350
IndiGenomes: chr16:89769947:G>C
 
ClinVar:           chr16:89769947:G>A 		NM_000135.4(FANCA):c.2394C>T (p.Leu798=) SNV
Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV001277943RCV001431916RCV003405481RCV004978222
IndiGenomes: chr16:89771763:C>A
 
ClinVar:           chr16:89771763:GC>G 		NM_000135.4(FANCA):c.2066del (p.Gly689fs) Deletion
Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided

1 SubmittersRCV001256490
IndiGenomes: chr16:89791458:C>T
 
ClinVar:           chr16:89791458:C>G 		NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro) SNV
Likely pathogenic Fanconi anemia Criteria Provided
Single Submitter

1 SubmittersRCV001980940
IndiGenomes: chr16:89803259:C>A
 
ClinVar:           chr16:89803259:C>T 		NM_000135.4(FANCA):c.792G>A (p.Gln264=) SNV
Pathogenic Fanconi anemia complementation group A No Assertion Criteria Provided

1 SubmittersRCV001256230
IndiGenomes: chr16:89810953:A>G
 
ClinVar:           chr16:89810953:A>AG 		NM_000135.4(FANCA):c.401dup (p.Val135fs) Duplication
Pathogenic Fanconi anemia complementation group A
Fanconi anemia		 Criteria Provided
Single Submitter

3 SubmittersRCV000674321RCV001037066